Page last updated: 2024-09-04

phytenic acid and Sjogren-Larsson Syndrome

phytenic acid has been researched along with Sjogren-Larsson Syndrome in 3 studies

*Sjogren-Larsson Syndrome: An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. [MeSH]

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's3 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Dacremont, G; Jansen, GA; Rontani, JF; van den Brink, DM; van Miert, JN; Wanders, RJ1
van den Brink, DM; van Miert, JM; Wanders, RJ2

Other Studies

3 other study(ies) available for phytenic acid and Sjogren-Larsson Syndrome

ArticleYear
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid.
    Molecular genetics and metabolism, 2004, Volume: 82, Issue:1

    Topics: Aldehyde Oxidoreductases; Cell Culture Techniques; Fatty Acids; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Molecular Structure; Phytanic Acid; Phytol; Refsum Disease; Sjogren-Larsson Syndrome

2004
Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation.
    Clinical chemistry, 2005, Volume: 51, Issue:1

    Topics: Aldehyde Oxidoreductases; Cell Line; Clinical Enzyme Tests; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Phytanic Acid; Phytol; Sjogren-Larsson Syndrome

2005
A novel assay for the prenatal diagnosis of Sjögren-Larsson syndrome.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6

    Topics: Alcohol Oxidoreductases; Aldehyde Oxidoreductases; Biopsy; Cells, Cultured; Chorionic Villi; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Models, Chemical; Phytanic Acid; Phytol; Prenatal Diagnosis; Sjogren-Larsson Syndrome; Time Factors

2005